Incidental Mutation 'R7940:Fgd6'
| ID |
649016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd6
|
| Ensembl Gene |
ENSMUSG00000020021 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 6 |
| Synonyms |
Etohd4, ZFYVE24 |
| MMRRC Submission |
045986-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.413)
|
| Stock # |
R7940 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
93871863-93981201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93956344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1008
(V1008I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020208]
|
| AlphaFold |
Q69ZL1 |
| PDB Structure |
Solution Structure of the Pleckstrin Homology Domain of Mouse Ethanol Decreased 4 Protein [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020208
AA Change: V1008I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: V1008I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
821 |
N/A |
INTRINSIC |
|
RhoGEF
|
845 |
1029 |
3.09e-46 |
SMART |
|
PH
|
1060 |
1155 |
6.25e-15 |
SMART |
|
FYVE
|
1183 |
1251 |
6.93e-28 |
SMART |
|
low complexity region
|
1268 |
1282 |
N/A |
INTRINSIC |
|
PH
|
1303 |
1398 |
1.54e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
G |
7: 130,952,767 (GRCm39) |
M238T |
probably benign |
Het |
| Acacb |
C |
T |
5: 114,304,108 (GRCm39) |
S177F |
possibly damaging |
Het |
| Afap1l2 |
A |
G |
19: 56,902,597 (GRCm39) |
V822A |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,743,693 (GRCm39) |
P1170L |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,227,596 (GRCm39) |
I1234V |
probably damaging |
Het |
| Ascc1 |
G |
A |
10: 59,848,381 (GRCm39) |
V103M |
probably null |
Het |
| Brca2 |
C |
G |
5: 150,462,198 (GRCm39) |
T654S |
probably benign |
Het |
| Cblb |
T |
C |
16: 51,972,899 (GRCm39) |
F410S |
probably damaging |
Het |
| Cep95 |
T |
A |
11: 106,686,974 (GRCm39) |
N94K |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cpe |
T |
A |
8: 65,047,945 (GRCm39) |
S440C |
probably damaging |
Het |
| Cspg4 |
C |
T |
9: 56,795,381 (GRCm39) |
Q1039* |
probably null |
Het |
| Cul5 |
A |
T |
9: 53,535,069 (GRCm39) |
S612T |
probably benign |
Het |
| Dapl1 |
T |
C |
2: 59,315,112 (GRCm39) |
|
probably null |
Het |
| Deptor |
C |
T |
15: 55,072,244 (GRCm39) |
T241M |
probably benign |
Het |
| Dnaaf1 |
A |
G |
8: 120,309,454 (GRCm39) |
T181A |
possibly damaging |
Het |
| Dnajc11 |
G |
T |
4: 152,053,045 (GRCm39) |
Q156H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,206,757 (GRCm39) |
V975A |
possibly damaging |
Het |
| Elf3 |
T |
A |
1: 135,184,866 (GRCm39) |
S107C |
probably damaging |
Het |
| Enpp2 |
T |
A |
15: 54,770,324 (GRCm39) |
D105V |
probably damaging |
Het |
| Frmpd2 |
C |
T |
14: 33,276,850 (GRCm39) |
R1157* |
probably null |
Het |
| Gabrg2 |
A |
C |
11: 41,858,474 (GRCm39) |
V218G |
probably benign |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,953 (GRCm39) |
A328V |
probably damaging |
Het |
| Glis1 |
C |
G |
4: 107,489,571 (GRCm39) |
F719L |
probably damaging |
Het |
| Glis1 |
A |
T |
4: 107,489,572 (GRCm39) |
N720Y |
probably damaging |
Het |
| Grin2c |
G |
T |
11: 115,146,107 (GRCm39) |
A546D |
probably damaging |
Het |
| Gtf3c5 |
G |
A |
2: 28,458,592 (GRCm39) |
T433I |
possibly damaging |
Het |
| Jmjd6 |
C |
A |
11: 116,734,055 (GRCm39) |
|
probably benign |
Het |
| Kctd14 |
T |
C |
7: 97,106,891 (GRCm39) |
S49P |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,006,521 (GRCm39) |
K877* |
probably null |
Het |
| Lgr4 |
T |
A |
2: 109,836,858 (GRCm39) |
S397R |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,262,541 (GRCm39) |
I4420N |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,783,089 (GRCm39) |
K441E |
possibly damaging |
Het |
| Minpp1 |
A |
T |
19: 32,463,359 (GRCm39) |
S7C |
possibly damaging |
Het |
| Mrps9 |
T |
A |
1: 42,901,808 (GRCm39) |
D105E |
probably damaging |
Het |
| Ncoa1 |
C |
A |
12: 4,363,095 (GRCm39) |
A247S |
possibly damaging |
Het |
| Or52b4i |
G |
A |
7: 102,191,515 (GRCm39) |
R124H |
possibly damaging |
Het |
| Or8c15 |
T |
C |
9: 38,120,496 (GRCm39) |
V47A |
probably benign |
Het |
| Pabir1 |
G |
A |
19: 24,454,552 (GRCm39) |
R57W |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,883,026 (GRCm39) |
K790E |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,430,022 (GRCm39) |
V1250I |
probably damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,153,409 (GRCm39) |
T43S |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,516,480 (GRCm39) |
R549C |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Polq |
T |
A |
16: 36,881,004 (GRCm39) |
M1056K |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,803,793 (GRCm39) |
N455K |
probably benign |
Het |
| Rhbdf1 |
T |
A |
11: 32,166,258 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rspry1 |
G |
T |
8: 95,349,635 (GRCm39) |
V8L |
probably benign |
Het |
| Slc6a20b |
A |
G |
9: 123,436,666 (GRCm39) |
V249A |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,455,046 (GRCm39) |
H402L |
possibly damaging |
Het |
| Supt20 |
A |
T |
3: 54,620,620 (GRCm39) |
N393I |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,528,993 (GRCm39) |
K102E |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,274,798 (GRCm39) |
Y353C |
probably damaging |
Het |
| Usp24 |
A |
T |
4: 106,287,741 (GRCm39) |
Q2465L |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,605,946 (GRCm39) |
M286K |
probably damaging |
Het |
| Wnt16 |
C |
A |
6: 22,291,188 (GRCm39) |
N205K |
possibly damaging |
Het |
| Xkr7 |
C |
A |
2: 152,874,135 (GRCm39) |
F67L |
probably damaging |
Het |
| Zfp473 |
T |
G |
7: 44,384,000 (GRCm39) |
E111A |
probably damaging |
Het |
| Zfp74 |
T |
C |
7: 29,631,867 (GRCm39) |
K126E |
probably benign |
Het |
|
| Other mutations in Fgd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00764:Fgd6
|
APN |
10 |
93,879,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00975:Fgd6
|
APN |
10 |
93,969,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01366:Fgd6
|
APN |
10 |
93,879,338 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01940:Fgd6
|
APN |
10 |
93,925,512 (GRCm39) |
splice site |
probably null |
|
|
IGL01958:Fgd6
|
APN |
10 |
93,974,170 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01988:Fgd6
|
APN |
10 |
93,910,197 (GRCm39) |
splice site |
probably benign |
|
|
IGL02019:Fgd6
|
APN |
10 |
93,969,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02074:Fgd6
|
APN |
10 |
93,963,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02227:Fgd6
|
APN |
10 |
93,969,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02262:Fgd6
|
APN |
10 |
93,961,490 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02353:Fgd6
|
APN |
10 |
93,974,258 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02360:Fgd6
|
APN |
10 |
93,974,258 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02425:Fgd6
|
APN |
10 |
93,910,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02526:Fgd6
|
APN |
10 |
93,936,373 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02607:Fgd6
|
APN |
10 |
93,880,310 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02741:Fgd6
|
APN |
10 |
93,959,152 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02870:Fgd6
|
APN |
10 |
93,881,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Fgd6
|
APN |
10 |
93,881,501 (GRCm39) |
splice site |
probably benign |
|
|
IGL02995:Fgd6
|
APN |
10 |
93,881,342 (GRCm39) |
nonsense |
probably null |
|
|
IGL03189:Fgd6
|
APN |
10 |
93,880,318 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03258:Fgd6
|
APN |
10 |
93,969,215 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03396:Fgd6
|
APN |
10 |
93,880,318 (GRCm39) |
missense |
probably benign |
0.26 |
|
FR4449:Fgd6
|
UTSW |
10 |
93,880,182 (GRCm39) |
small deletion |
probably benign |
|
|
R0257:Fgd6
|
UTSW |
10 |
93,879,777 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0926:Fgd6
|
UTSW |
10 |
93,970,909 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1325:Fgd6
|
UTSW |
10 |
93,963,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Fgd6
|
UTSW |
10 |
93,881,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Fgd6
|
UTSW |
10 |
93,880,694 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1593:Fgd6
|
UTSW |
10 |
93,880,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Fgd6
|
UTSW |
10 |
93,973,298 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1929:Fgd6
|
UTSW |
10 |
93,880,868 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2064:Fgd6
|
UTSW |
10 |
93,880,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2965:Fgd6
|
UTSW |
10 |
93,880,056 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2966:Fgd6
|
UTSW |
10 |
93,880,056 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3889:Fgd6
|
UTSW |
10 |
93,925,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Fgd6
|
UTSW |
10 |
93,879,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4605:Fgd6
|
UTSW |
10 |
93,880,217 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4883:Fgd6
|
UTSW |
10 |
93,975,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5217:Fgd6
|
UTSW |
10 |
93,969,939 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5473:Fgd6
|
UTSW |
10 |
93,880,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5606:Fgd6
|
UTSW |
10 |
93,974,190 (GRCm39) |
nonsense |
probably null |
|
|
R5644:Fgd6
|
UTSW |
10 |
93,969,912 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6051:Fgd6
|
UTSW |
10 |
93,973,427 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6258:Fgd6
|
UTSW |
10 |
93,880,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6735:Fgd6
|
UTSW |
10 |
93,910,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7181:Fgd6
|
UTSW |
10 |
93,879,373 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7210:Fgd6
|
UTSW |
10 |
93,969,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7296:Fgd6
|
UTSW |
10 |
93,975,743 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7296:Fgd6
|
UTSW |
10 |
93,879,909 (GRCm39) |
nonsense |
probably null |
|
|
R7697:Fgd6
|
UTSW |
10 |
93,881,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7747:Fgd6
|
UTSW |
10 |
93,880,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Fgd6
|
UTSW |
10 |
93,939,193 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8022:Fgd6
|
UTSW |
10 |
93,880,206 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8138:Fgd6
|
UTSW |
10 |
93,970,005 (GRCm39) |
missense |
probably null |
0.45 |
|
R8171:Fgd6
|
UTSW |
10 |
93,910,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8189:Fgd6
|
UTSW |
10 |
93,910,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8213:Fgd6
|
UTSW |
10 |
93,879,914 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8960:Fgd6
|
UTSW |
10 |
93,880,868 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8981:Fgd6
|
UTSW |
10 |
93,880,916 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8989:Fgd6
|
UTSW |
10 |
93,959,425 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9609:Fgd6
|
UTSW |
10 |
93,879,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF031:Fgd6
|
UTSW |
10 |
93,880,187 (GRCm39) |
frame shift |
probably null |
|
|
RF040:Fgd6
|
UTSW |
10 |
93,880,187 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGAGCTGTGTGTTCCAGG -3'
(R):5'- AAGAGGCTTCCAGATCAGGC -3'
Sequencing Primer
(F):5'- TTCACAGGGGTCATCTAGGACTAC -3'
(R):5'- GACTGCTATCACCTGCCTGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation